Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02016:Uqcrfs1'

183754

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uqcrfs1

Ensembl Gene

ENSMUSG00000038462

Gene Name

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

Synonyms

4430402G14Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL02016

Quality Score

Status

Chromosome

Chromosomal Location

30724295-30729299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 30729097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 45 (V45G)

Ref Sequence

ENSEMBL: ENSMUSP00000045284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042834]

AlphaFold

Q9CR68

Predicted Effect

probably benign
Transcript: ENSMUST00000042834
AA Change: V45G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045284
Gene: ENSMUSG00000038462
AA Change: V45G

Domain	Start	End	E-Value	Type
Pfam:Ubiq-Cytc-red_N	2	77	6.4e-30	PFAM
Pfam:UCR_TM	80	145	1.3e-33	PFAM
Pfam:Rieske	176	268	5.6e-12	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutant mice harboring a 3' UTR insertion that reduces expression specifically in skin acquire dark patches in the dorsal brown coat at 4-7 months of age. In heterozygotes, the dark patches eventually fill the entire dorsal region; in homozygotes, the dark patches eventually turn grey. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	C	A	2: 127,028,875 (GRCm39)	G108V	probably damaging	Het
A2ml1	T	C	6: 128,535,298 (GRCm39)	E804G	probably damaging	Het
Abcg4	G	A	9: 44,198,647 (GRCm39)	T35M	probably damaging	Het
Acad9	A	T	3: 36,142,635 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,545,572 (GRCm39)	D5571G	probably damaging	Het
App	T	A	16: 84,853,409 (GRCm39)	D223V	unknown	Het
Arhgap30	A	G	1: 171,235,315 (GRCm39)	E563G	probably damaging	Het
Atp6v1e2	A	T	17: 87,251,822 (GRCm39)	V192D	probably damaging	Het
Atr	G	A	9: 95,809,228 (GRCm39)	V1969I	probably benign	Het
Bean1	T	C	8: 104,937,550 (GRCm39)	L43S	possibly damaging	Het
Cand1	A	G	10: 119,048,473 (GRCm39)	V436A	probably damaging	Het
Card6	T	C	15: 5,137,738 (GRCm39)	I39V	probably damaging	Het
Ccdc73	A	G	2: 104,805,961 (GRCm39)	T300A	probably benign	Het
Ccdc88c	T	C	12: 100,907,466 (GRCm39)	T962A	possibly damaging	Het
Chd6	G	T	2: 160,825,598 (GRCm39)	L1169I	probably damaging	Het
Chrna7	A	T	7: 62,753,583 (GRCm39)	V312E	probably damaging	Het
Dna2	A	G	10: 62,796,191 (GRCm39)	N540S	probably benign	Het
Elavl2	T	C	4: 91,149,172 (GRCm39)	E209G	probably damaging	Het
Elmo2	A	G	2: 165,136,932 (GRCm39)		probably null	Het
Fto	A	T	8: 92,393,034 (GRCm39)	R494*	probably null	Het
Garre1	A	G	7: 33,938,526 (GRCm39)	M791T	possibly damaging	Het
Gm9966	A	T	7: 95,608,014 (GRCm39)	T112S	unknown	Het
Gtf3c1	A	C	7: 125,267,211 (GRCm39)	I940S	probably damaging	Het
Hecw2	C	A	1: 53,870,702 (GRCm39)	Q1426H	possibly damaging	Het
Iars2	A	C	1: 185,035,503 (GRCm39)	L579R	probably damaging	Het
Ifih1	A	C	2: 62,437,328 (GRCm39)	M537R	probably benign	Het
Kcnmb4	A	G	10: 116,282,367 (GRCm39)		probably benign	Het
Large2	A	G	2: 92,199,888 (GRCm39)	V175A	possibly damaging	Het
Mad2l1bp	A	G	17: 46,464,428 (GRCm39)		probably benign	Het
Muc20	A	T	16: 32,617,722 (GRCm39)	F14Y	possibly damaging	Het
Myom2	A	G	8: 15,175,195 (GRCm39)	E1258G	probably benign	Het
Or8k28	A	T	2: 86,285,841 (GRCm39)	M258K	probably damaging	Het
Parp1	A	T	1: 180,426,516 (GRCm39)		probably null	Het
Pramel22	T	A	4: 143,381,889 (GRCm39)	E269V	possibly damaging	Het
Prkra	A	T	2: 76,473,653 (GRCm39)		probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Scd1	C	T	19: 44,388,746 (GRCm39)	G235S	probably benign	Het
Sdk1	A	G	5: 142,020,184 (GRCm39)	H654R	possibly damaging	Het
Sesn3	A	G	9: 14,231,633 (GRCm39)	Y188C	probably damaging	Het
Slc26a4	T	C	12: 31,585,666 (GRCm39)	M461V	probably damaging	Het
Slc28a2	A	G	2: 122,285,822 (GRCm39)	I439V	probably benign	Het
Smc5	T	A	19: 23,251,076 (GRCm39)	N36I	probably benign	Het
Smurf2	A	G	11: 106,713,504 (GRCm39)	F745S	probably damaging	Het
Spata22	A	G	11: 73,226,857 (GRCm39)	N65S	possibly damaging	Het
Tanc1	A	G	2: 59,673,934 (GRCm39)	T1680A	probably benign	Het
Tnxb	G	A	17: 34,891,249 (GRCm39)	V531M	probably damaging	Het
Trpm3	T	G	19: 22,879,433 (GRCm39)	Y727*	probably null	Het
Tssk1	A	T	16: 17,712,758 (GRCm39)	Y181F	probably damaging	Het
Ucp3	T	A	7: 100,129,766 (GRCm39)	V136E	probably damaging	Het
Uvrag	A	G	7: 98,748,649 (GRCm39)	I101T	probably benign	Het
Vmn1r206	A	T	13: 22,804,334 (GRCm39)	L291Q	probably damaging	Het
Wnk2	T	A	13: 49,210,381 (GRCm39)	I1813F	probably damaging	Het
Zbtb3	T	A	19: 8,780,579 (GRCm39)	V64E	probably damaging	Het
Zeb2	A	G	2: 44,878,886 (GRCm39)	I1115T	possibly damaging	Het
Zfp280b	C	T	10: 75,874,945 (GRCm39)	L275F	possibly damaging	Het

Other mutations in Uqcrfs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Uqcrfs1	APN	13	30,724,908 (GRCm39)	missense	probably benign	0.14
IGL01318:Uqcrfs1	APN	13	30,724,904 (GRCm39)	missense	probably benign	0.15
IGL01603:Uqcrfs1	APN	13	30,725,181 (GRCm39)	missense	probably benign
IGL02740:Uqcrfs1	APN	13	30,725,006 (GRCm39)	missense	probably damaging	1.00
R0142:Uqcrfs1	UTSW	13	30,724,925 (GRCm39)	missense	probably benign	0.26
R0266:Uqcrfs1	UTSW	13	30,725,146 (GRCm39)	missense	probably benign	0.17
R1457:Uqcrfs1	UTSW	13	30,724,890 (GRCm39)	missense	probably damaging	1.00
R1469:Uqcrfs1	UTSW	13	30,724,784 (GRCm39)	missense	probably damaging	1.00
R1469:Uqcrfs1	UTSW	13	30,724,784 (GRCm39)	missense	probably damaging	1.00
R2079:Uqcrfs1	UTSW	13	30,725,291 (GRCm39)	missense	probably benign	0.19
R2134:Uqcrfs1	UTSW	13	30,724,787 (GRCm39)	missense	probably benign	0.22
R2262:Uqcrfs1	UTSW	13	30,725,090 (GRCm39)	missense	probably benign	0.01
R2263:Uqcrfs1	UTSW	13	30,725,090 (GRCm39)	missense	probably benign	0.01
R4324:Uqcrfs1	UTSW	13	30,725,141 (GRCm39)	missense	probably benign	0.35
R4963:Uqcrfs1	UTSW	13	30,724,746 (GRCm39)	missense	probably damaging	1.00
R5783:Uqcrfs1	UTSW	13	30,729,187 (GRCm39)	missense	probably damaging	1.00
R8280:Uqcrfs1	UTSW	13	30,729,071 (GRCm39)	missense	probably benign	0.01
R8368:Uqcrfs1	UTSW	13	30,724,799 (GRCm39)	missense	probably damaging	1.00
R9260:Uqcrfs1	UTSW	13	30,725,108 (GRCm39)	missense	probably damaging	0.97
R9261:Uqcrfs1	UTSW	13	30,724,794 (GRCm39)	missense	probably damaging	0.99
R9511:Uqcrfs1	UTSW	13	30,729,037 (GRCm39)	missense	probably benign	0.10

Posted On

2014-05-07